Canonical Allele Identifier: CA483440222

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 481499
• ClinVar RCV Id: RCV000568111 ; RCV000637935
• dbSNP Id: rs1555289988
• gnomAD v4: 13-32398395-A-T
• MyVariant Identifiers: chr13:g.32972532A>T (hg19) ; chr13:g.32398395A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398395A>T , CM000675.2:g.32398395A>T	GRCh38
NC_000013.10:g.32972532A>T , CM000675.1:g.32972532A>T	GRCh37
NC_000013.9:g.31870532A>T	NCBI36
NG_012772.3:g.87916A>T , LRG_293:g.87916A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*405A>T	ENSP00000434898.2:n.*405A>T
ENST00000528762.2:c.*1249A>T	ENSP00000433168.2:n.*1249A>T
ENST00000530893.7:c.9513A>T	ENSP00000499438.2:p.Ala3171=
ENST00000665585.2:c.*1444A>T	ENSP00000499570.2:n.*1444A>T
ENST00000700202.2:c.9831A>T	ENSP00000514856.2:p.Ala3277=
ENST00000700202.1:c.2298A>T	ENSP00000514856.1:p.Ala766=
ENST00000700203.1:n.2009A>T
ENST00000380152.8:c.9882A>T MANE Select	ENSP00000369497.3:p.Ala3294=
ENST00000544455.6:c.9882A>T	ENSP00000439902.1:p.Ala3294=
ENST00000614259.2:c.9890A>T	ENSP00000506251.1:n.9890A>T
ENST00000680887.1:c.9882A>T	ENSP00000505508.1:p.Ala3294=
ENST00000380152.7:c.9882A>T	ENSP00000369497.3:p.Ala3294=
ENST00000533776.1:n.470A>T
ENST00000544455.5:c.9882A>T	ENSP00000439902.1:p.Ala3294=
NM_000059.3:c.9882A>T , LRG_293t1:c.9882A>T	NP_000050.2:p.Ala3294=
XM_011535203.1:c.9882A>T	XP_011533505.1:p.Ala3294=
XM_011535204.1:c.9786A>T	XP_011533506.1:p.Ala3262=
NM_000059.4:c.9882A>T MANE Select	NP_000050.3:p.Ala3294=